LOCUS       NM_001032221            3754 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens syntaxin binding protein 1 (STXBP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001032221
VERSION     NM_001032221.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3754)
  AUTHORS   Wang,Z., Zhang,J., Zhou,Y., Liu,G., Tian,Z. and Song,X.
  TITLE     A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy
            Associated with Hypomyelinating Leukodystrophy
  JOURNAL   Int J Mol Sci 25 (20), 10983 (2024)
   PUBMED   39456768
  REMARK    GeneRIF: A De Novo Splicing Mutation of STXBP1 in Epileptic
            Encephalopathy Associated with Hypomyelinating Leukodystrophy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3754)
  AUTHORS   Andre,T., van Berkel,A.A., Singh,G., Abualrous,E.T., Diwan,G.D.,
            Schmenger,T., Braun,L., Malsam,J., Toonen,R.F., Freund,C.,
            Russell,R.B., Verhage,M. and Sollner,T.H.
  TITLE     Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1
            Variants and Improved Disease Prediction
  JOURNAL   Biol Psychiatry 96 (2), 125-136 (2024)
   PUBMED   38490366
  REMARK    GeneRIF: Reduced Protein Stability of 11 Pathogenic Missense
            STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
REFERENCE   3  (bases 1 to 3754)
  AUTHORS   Ottl,M., Toonen,R.F. and Verhage,M.
  TITLE     Reduced synaptic depression in human neurons carrying homozygous
            disease-causing STXBP1 variant L446F
  JOURNAL   Hum Mol Genet 33 (11), 991-1000 (2024)
   PUBMED   38484778
  REMARK    GeneRIF: Reduced synaptic depression in human neurons carrying
            homozygous disease-causing STXBP1 variant L446F.
REFERENCE   4  (bases 1 to 3754)
  AUTHORS   Thalwitzer,K.M., Xian,J., de Campo,D., Parthasarathy,S.,
            Magielski,J., Sullivan,K.R., Goss,J., Rigby,C.S., Boland,M.,
            Prosser,B., Ruggiero,S.M., Syrbe,S. and Helbig,I.
  TITLE     Early life seizures and epileptic spasms in STXBP1-related
            disorders
  JOURNAL   Epilepsia 65 (3), 805-816 (2024)
   PUBMED   38279907
  REMARK    GeneRIF: Early life seizures and epileptic spasms in STXBP1-related
            disorders.
REFERENCE   5  (bases 1 to 3754)
  AUTHORS   Tellam,J.T., Macaulay,S.L., McIntosh,S., Hewish,D.R., Ward,C.W. and
            James,D.E.
  TITLE     Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes.
            Putative role in insulin-dependent movement of GLUT-4
  JOURNAL   J Biol Chem 272 (10), 6179-6186 (1997)
   PUBMED   9045631
REFERENCE   6  (bases 1 to 3754)
  AUTHORS   Gengyo-Ando,K., Kitayama,H., Mukaida,M. and Ikawa,Y.
  TITLE     A murine neural-specific homolog corrects cholinergic defects in
            Caenorhabditis elegans unc-18 mutants
  JOURNAL   J Neurosci 16 (21), 6695-6702 (1996)
   PUBMED   8824310
  REMARK    GeneRIF: Describes cloning of mouse and human homologs of C.
            elegans UNC-18.
REFERENCE   7  (bases 1 to 3754)
  AUTHORS   Fujita,Y., Sasaki,T., Fukui,K., Kotani,H., Kimura,T., Hata,Y.,
            Sudhof,T.C., Scheller,R.H. and Takai,Y.
  TITLE     Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its
            implication in regulating the interaction of Munc-18/n-Sec1/rbSec1
            with syntaxin
  JOURNAL   J Biol Chem 271 (13), 7265-7268 (1996)
   PUBMED   8631738
REFERENCE   8  (bases 1 to 3754)
  AUTHORS   Garcia,E.P., McPherson,P.S., Chilcote,T.J., Takei,K. and De
            Camilli,P.
  TITLE     rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the
            axon, but are not in a stable complex with syntaxin
  JOURNAL   J Cell Biol 129 (1), 105-120 (1995)
   PUBMED   7698978
REFERENCE   9  (bases 1 to 3754)
  AUTHORS   Pevsner,J., Hsu,S.C. and Scheller,R.H.
  TITLE     n-Sec1: a neural-specific syntaxin-binding protein
  JOURNAL   Proc Natl Acad Sci U S A 91 (4), 1445-1449 (1994)
   PUBMED   8108429
REFERENCE   10 (bases 1 to 3754)
  AUTHORS   Mercimek-Andrews,S.
  TITLE     STXBP1 Encephalopathy with Epilepsy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27905812
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162426.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 2, 2019 this sequence version replaced NM_001032221.5.
            
            Summary: This gene encodes a syntaxin-binding protein. The encoded
            protein appears to play a role in release of neurotransmitters via
            regulation of syntaxin, a transmembrane attachment protein
            receptor. Mutations in this gene have been associated with
            infantile epileptic encephalopathy-4. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Feb
            2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF004562.1, D63851.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373299.5/ ENSP00000362396.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-164               AL162426.20        25590-25753
            165-214             AL162426.20        64916-64965
            215-296             AL162426.20        67028-67109
            297-373             AL162426.20        71688-71764
            374-452             AL162426.20        73343-73421
            453-556             AL162426.20        74415-74518
            557-705             AL162426.20        76518-76666
            706-790             AL162426.20        78560-78644
            791-921             AL162426.20        79479-79609
            922-1029            AL162426.20        81393-81500
            1030-1090           AL162426.20        83211-83271
            1091-1156           AL162426.20        85364-85429
            1157-1237           AL162426.20        86494-86574
            1238-1376           AL162426.20        89117-89255
            1377-1486           AL162426.20        89957-90066
            1487-1588           AL162426.20        91744-91845
            1589-1674           AL162426.20        93470-93555
            1675-1829           AL162426.20        95719-95873
            1830-3754           AL162426.20        104088-106012
FEATURES             Location/Qualifiers
     source          1..3754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3754
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="syntaxin binding protein 1"
                     /db_xref="GeneID:6812"
                     /db_xref="HGNC:HGNC:11444"
                     /db_xref="MIM:602926"
     exon            1..164
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1912
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="isoform b is encoded by transcript variant 2;
                     neuronal SEC1; protein unc-18 homolog 1; protein unc-18
                     homolog A"
                     /codon_start=1
                     /product="syntaxin-binding protein 1 isoform b"
                     /protein_id="NP_001027392.1"
                     /db_xref="CCDS:CCDS35146.1"
                     /db_xref="GeneID:6812"
                     /db_xref="HGNC:HGNC:11444"
                     /db_xref="MIM:602926"
                     /translation="MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSC
                     CKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAA
                     HVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPH
                     KAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPT
                     MGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARV
                     KEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKM
                     PQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVP
                     ILLDANVSTYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPI
                     VTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSA
                     SFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVL
                     IGSTHILTPQKLLDTLKKLNKTDEEISS"
     exon            165..214
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            215..296
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            297..373
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            374..452
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            453..556
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            557..705
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            706..790
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            791..921
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1029
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1090
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1156
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1237
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1376
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1486
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1588
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1674
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1829
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1830..3754
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3730..3735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="hexamer: AATAAA"
     polyA_site      3754
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="major polyA site"
ORIGIN      
        1 agtcggtccc tagcgcggct gcggggcgga gagctgcggc tggcccagcg cgcccacctg
       61 aggaggcggc ggggtccgca ggcgtcgcgg gacgaggaga tcggagccgg gagactcgcg
      121 cagcgccatg gcccccattg gcctcaaagc tgttgtcgga gagaagatta tgcatgatgt
      181 gataaagaag gtcaagaaga agggggaatg gaaggtgctg gtggtggatc agttaagcat
      241 gaggatgctg tcctcctgct gcaagatgac agacatcatg accgagggca taacgattgt
      301 ggaagatatc aataagcgca gagagccgct ccccagcctg gaggctgtgt atctcatcac
      361 tccatccgag aagtccgtcc actctctcat cagtgacttt aaggacccgc cgactgctaa
      421 ataccgggct gcacacgtct tcttcactga ctcttgtcca gatgccctgt ttaatgaact
      481 ggtaaaatcc cgagcagcca aagtcatcaa aactctgacg gaaatcaata ttgcatttct
      541 cccgtatgaa tcccaggtct attccttgga ctctgctgac tctttccaaa gcttctacag
      601 tccccacaag gctcagatga agaatcctat actggagcgc ctggcagagc agatcgcgac
      661 cctttgtgcc accctgaagg agtacccggc tgtgcggtat cggggggaat acaaggacaa
      721 tgccctgctg gctcagctaa tccaggacaa gctcgatgcc tataaagctg atgatccaac
      781 aatgggggag ggcccagaca aggcacgctc ccagctcctg atcctggatc gaggctttga
      841 ccccagctcc cctgtgctcc atgaattgac ttttcaggct atgagttatg atctgctgcc
      901 tatcgaaaat gatgtataca agtatgagac cagcggcatc ggggaggcac gggtgaagga
      961 ggtgctcctg gacgaggacg acgacctgtg gatagcactg cgccacaagc acatcgcaga
     1021 ggtgtcccag gaagtcaccc ggtctctgaa agatttttct tctagcaaga gaatgaatac
     1081 tggagagaag accaccatgc gggacctgtc ccagatgctg aagaagatgc ctcagtacca
     1141 gaaagagctc agcaagtact ccacccacct gcaccttgct gaggactgta tgaagcatta
     1201 ccaaggcacc gtagacaaac tctgccgagt ggagcaggac ctggccatgg gcacagatgc
     1261 tgagggagag aagatcaagg accctatgcg agccatcgtc cccattctgc tggatgccaa
     1321 tgtcagcact tatgacaaaa tccgcatcat ccttctctac atctttttga agaatggcat
     1381 cacggaggaa aacctgaaca aactgatcca gcacgcccag atacccccgg aggatagtga
     1441 gatcatcacc aacatggctc acctcggcgt gcccatcgtc accgattcca cgctgcgtcg
     1501 ccggagcaag ccggagcgga aggaacgcat cagcgagcag acctaccagc tctcacggtg
     1561 gactccgatt atcaaggaca tcatggagga cactattgag gacaaacttg acaccaaaca
     1621 ctacccttat atctctaccc gttcctctgc ctccttcagc accaccgccg tcagcgcccg
     1681 ctatgggcac tggcataaga acaaggcccc aggcgagtac cgcagtggcc cccgcctcat
     1741 cattttcatc cttgggggtg tgagcctgaa tgagatgcgc tgcgcctacg aggtgaccca
     1801 ggccaacgga aagtgggagg tgctgatagg atccacacac atcctcaccc cacagaaact
     1861 gctggacaca ctgaagaaac tgaataaaac agatgaagaa ataagcagtt aaaaaaataa
     1921 gtcgcccctc caaaacacgc ccccatccca cagcgctccg cagcttccca ccaccgcccg
     1981 cctcagttcc tttgcgtctg ttgcctcccc agccctgcac gccctggctg gcactgttgc
     2041 cgctgcattc tcgtgttcag tgatgccctc ttcttgtttg aaacaaaaga aaataatgca
     2101 ttgtgttttt taaaaagagt atcttataca tgtatcctaa aaagagaagc tcatgtgcaa
     2161 ttggtgcaca gcaggagaaa tttctggact gttaggatga atggacgcct tctccccgtt
     2221 atttaagatt tgtgaccttg tacataaccc tgggtgacgt gcacattgct tgggtatgga
     2281 acggtagaaa tttgggtgtt tttaaaacct tgtttggggt tgttcctgtc cttgttgaga
     2341 atcatagaga tgtctgtgtt cttggagtat ttcacactga ggactaatct gctatcttca
     2401 ttccagtccc tacccctcag tgcctgctct catccaaata acctgggagg tgacaatcag
     2461 gatatctcag gaggtccaag gtggaacaga cctctttgcc tttcccagcg tctcataccc
     2521 ccggtagtgc agctgtgggt ggaggctggg gtgtctgcac gaagtcaggc cagcgtcctc
     2581 ctccacagcc tgtcactgcc ccctccccag cctgtgtcca cagtgctgtg atcccgaggg
     2641 aagtcctcca gtctaagtca cagtgccctg acaggtgaga agcaaactcc cgctggaagc
     2701 ctccatctct ttggaaaaac agttagtctg gagcctgtgg cccaggccct tctgtcccca
     2761 ggcatcatcc caacagctca ttttccctag tccgccttcg ttcaagggtc aggaatggac
     2821 cagaacagat gggttctgga ggcccctgaa cagagggcta tggctgtgga gaaggttctt
     2881 ggcccgttgg actcacacag accctgtacc ctctcggcaa gcatcttcag tcagattatc
     2941 ctcagtttca gatacttcat aataccttgt gttgtgtggg gtcatacatc atcgtgtttg
     3001 taagagaaga tggtcatttt attctctgta taaaacttag ctctaaagca gaaactaaag
     3061 cagcaaatgc aggaaggctg tctcgccatc ctcaagactc agcagctctc attctccagt
     3121 ggtgagcaca ccatttgtgc tgctgctgtt gtcgtgaaat ataataacag tggaagtcac
     3181 aaaaatgtcc cctgcccagc cccctcgccg cccttgacct cctgcaggcc atgtgtgtat
     3241 tacttgtcta gtgatgtcct ctcaaagtgc tgtacgcgag ctcggcgcca cctccgcctc
     3301 cctttcagag cctgctcccc gccctctctg ctcgctgcat tgtggtgttc tcttctcaag
     3361 gctttgaaat ctccccttgc actgagatta gtcgtcagat ctctccccgt ctccctccca
     3421 acttatacga cctgatttcc ttaggacgga accgcaggca cctgcgccgg gcgtcttact
     3481 cccgctgctt gttctgtccc ctccctcgga ccaaacagtg ctcatgcttc aggaccttgt
     3541 ttgtcgaaga tgttggtttc cctttctctg ttatttatat aaaaataatt tatcaaaagg
     3601 atattttaaa aaagctagtc tgtcttgaaa cttgtttacc ttaaaattat cagaatctca
     3661 gtgtttgaaa gtactgaagc acaaacatat atcatctctg taccattctg tactaaagca
     3721 cttgagtcta ataaataaag aaatcagcac ccct
//
